Variant report

Variant	nsv569344
Chromosome Location	chr15:49534702-49546105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:49535482..49538280-chr15:49538929..49540490,2	K562	blood:
2	chr15:49538461..49540714-chr15:49541925..49544059,3	K562	blood:
3	chr15:49541585..49543251-chr15:49545018..49547358,2	K562	blood:
4	chr15:49538461..49540714-chr15:49541925..49544059,3	K562	blood:
5	chr15:49533559..49535647-chr15:49536094..49538086,2	K562	blood:
6	chr15:49535482..49538280-chr15:49538929..49540490,2	K562	blood:
7	chr15:49470039..49472415-chr15:49535845..49538837,2	K562	blood:
8	chr15:49541585..49543251-chr15:49545018..49547358,2	K562	blood:
9	chr15:49527930..49530105-chr15:49533812..49536591,2	MCF-7	breast:
10	chr15:49533559..49535647-chr15:49536094..49538086,2	K562	blood:
11	chr15:49470915..49472999-chr15:49535845..49537993,2	K562	blood:
12	chr15:49527986..49530632-chr15:49532231..49535128,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259545	chromatin interactions

Extended variants
information (count: 393 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16962177	chr15:49534702-49534703	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534793850	chr15:49534721-49534722	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16962180	chr15:49534746-49534747	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574730239	chr15:49534830-49534831	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542520352	chr15:49534838-49534839	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs141493757	chr15:49534855-49534856	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs12593119	chr15:49534869-49534870	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543179002	chr15:49534889-49534890	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs564914657	chr15:49534925-49534926	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532260216	chr15:49534957-49534958	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547174160	chr15:49534995-49534996	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs535204655	chr15:49535062-49535063	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372243045	chr15:49535064-49535065	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558069400	chr15:49535079-49535080	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183230393	chr15:49535116-49535117	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548902813	chr15:49535225-49535226	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559462810	chr15:49535267-49535268	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373822327	chr15:49535268-49535269	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147073811	chr15:49535288-49535289	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537659802	chr15:49535293-49535294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145240823	chr15:49535321-49535322	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76167097	chr15:49535328-49535329	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547347974	chr15:49535332-49535333	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553148487	chr15:49535335-49535336	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545801392	chr15:49535356-49535357	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149094656	chr15:49535358-49535359	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574776019	chr15:49535404-49535405	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535430300	chr15:49535416-49535417	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117367350	chr15:49535430-49535431	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187787378	chr15:49535436-49535437	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555773214	chr15:49535459-49535460	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143119885	chr15:49535482-49535483	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191141413	chr15:49535516-49535517	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541131441	chr15:49535561-49535562	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565117465	chr15:49535588-49535589	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559137885	chr15:49535679-49535680	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371652684	chr15:49535694-49535695	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529738993	chr15:49535696-49535697	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548177075	chr15:49535718-49535719	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563260770	chr15:49535744-49535745	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184566466	chr15:49535781-49535782	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531635696	chr15:49535807-49535808	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552893237	chr15:49535824-49535825	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574894009	chr15:49535825-49535826	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574063166	chr15:49535831-49535832	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187689686	chr15:49535833-49535834	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544653039	chr15:49535862-49535863	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116447036	chr15:49535910-49535911	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192876401	chr15:49535923-49535924	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568428457	chr15:49535942-49535943	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Aromatase excess syndrome	21470988	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49463600-49540200	Weak transcription	Colonic Mucosa	Colon
2	chr15:49492000-49539400	Weak transcription	Small Intestine	intestine
3	chr15:49508800-49535800	Weak transcription	A549	lung
4	chr15:49510000-49541800	Weak transcription	NHEK	skin
5	chr15:49510200-49537000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:49518000-49535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:49518000-49541000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:49518200-49548600	Weak transcription	Aorta	Aorta
9	chr15:49518600-49557600	Weak transcription	Esophagus	oesophagus
10	chr15:49518800-49539200	Weak transcription	Ovary	ovary
11	chr15:49520400-49595600	Weak transcription	Right Ventricle	heart
12	chr15:49522000-49537800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr15:49522000-49538200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:49522000-49540400	Weak transcription	Stomach Mucosa	stomach
15	chr15:49522200-49535000	Weak transcription	Left Ventricle	heart
16	chr15:49522400-49559400	Weak transcription	Pancreas	Pancrea
17	chr15:49522600-49535200	Weak transcription	Gastric	stomach
18	chr15:49523800-49534800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:49523800-49540200	Weak transcription	Spleen	Spleen
20	chr15:49524600-49535200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:49524600-49535200	Weak transcription	Placenta	Placenta
22	chr15:49524600-49535200	Weak transcription	Thymus	Thymus
23	chr15:49524600-49539200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:49524600-49544800	Weak transcription	Lung	lung
25	chr15:49525200-49535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:49525200-49535000	Weak transcription	Fetal Intestine Large	intestine
27	chr15:49525400-49535200	Weak transcription	Fetal Intestine Small	intestine
28	chr15:49528000-49535400	Weak transcription	GM12878-XiMat	blood
29	chr15:49528000-49537200	Weak transcription	Brain Substantia Nigra	brain
30	chr15:49528000-49539600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:49528000-49576000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:49528400-49547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:49528600-49535000	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:49529000-49537000	Weak transcription	Brain Germinal Matrix	brain
35	chr15:49529200-49550600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr15:49529400-49535200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:49529400-49539800	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:49529400-49540200	Weak transcription	Fetal Brain Female	brain
39	chr15:49529400-49544200	Weak transcription	Brain Anterior Caudate	brain
40	chr15:49529400-49545600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:49529600-49541600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr15:49530000-49539200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:49530600-49536600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:49530600-49537800	Strong transcription	Liver	Liver
45	chr15:49530800-49536400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr15:49530800-49538600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr15:49531000-49534800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr15:49531000-49534800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:49531000-49535600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr15:49531000-49540400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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